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Summary
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw
CDG1W
615596
OMIM = Online Medalian Inheritance of Men
370921
11q24.2
rare
autosomal recessive
symptoms
cerebellar atrophy or hypoplasia
failure to thrive
feeding difficulties, poor feeding
hypotonia
mental retardation
microcephaly (<2 SD for age)
onset, neonatal
psychomotor retardation
seizures
laboratory finding
Literature
Erlandsen Het al.Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutationsProc Natl Acad Sci U S A1014816903-82004